rs12974988

Homo sapiens
G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0189 (5663/29938,GnomAD)
T=0237 (6920/29118,TOPMED)
T=0217 (1085/5008,1000G)
T=0114 (439/3854,ALSPAC)
T=0117 (432/3708,TWINSUK)
chr19:22743163 (GRCh38.p7) (19p12)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.22743163G>T
GRCh37.p13 chr 19NC_000019.9:g.22925965G>T
VN1R87P pseudogeneNG_015690.1:g.348C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.582T=0.418
1000GenomesAmericanSub694G=0.870T=0.130
1000GenomesEast AsianSub1008G=0.825T=0.175
1000GenomesEuropeSub1006G=0.864T=0.136
1000GenomesGlobalStudy-wide5008G=0.783T=0.217
1000GenomesSouth AsianSub978G=0.870T=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.886T=0.114
The Genome Aggregation DatabaseAfricanSub8716G=0.621T=0.379
The Genome Aggregation DatabaseAmericanSub838G=0.860T=0.140
The Genome Aggregation DatabaseEast AsianSub1614G=0.843T=0.157
The Genome Aggregation DatabaseEuropeSub18468G=0.895T=0.104
The Genome Aggregation DatabaseGlobalStudy-wide29938G=0.810T=0.189
The Genome Aggregation DatabaseOtherSub302G=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.762T=0.237
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.883T=0.117
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs129749880.000565alcohol dependence24277619

eQTL of rs12974988 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:22925965ZNF492ENSG00000229676.2G>T2.1394e-3108839Cerebellum
Chr19:22925965ZNF492ENSG00000229676.2G>T6.0727e-4108839Cerebellar_Hemisphere

meQTL of rs12974988 in Fetal Brain

Probe ID Position Gene beta p-value
cg09314196chr19:22816508ZNF4920.09337792996364152.5450e-27

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr192296655222967186E06740587
chr192296728422967378E06741319
chr192296655222967186E06840587
chr192296728422967378E06841319
chr192296655222967186E06940587
chr192296728422967378E06941319
chr192296655222967186E07140587
chr192296728422967378E07141319
chr192296655222967186E07240587
chr192296728422967378E07241319
chr192296655222967186E07340587
chr192296728422967378E07341319
chr192296655222967186E07440587
chr192296728422967378E07441319